PTHR1 - What does PTHR1 stand for? The Free Dictionary
References in periodicals archive
Recessive mutations in PTHR1
cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
An autosomal dominant inheritance pattern has been suggested, possibly linked to a mutation of the Parathyroid Hormone Receptor (PTHR1
) [Frazier-Bowers et al., 2010].
gene-signaling pathway plays a critical role in the regulation of endochondral ossification.
loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.